Disease #00770

Official abbreviation AAS;MRX-16
Name Aarskog-Scott syndrome (AAS, faciogenital dysplasia, mental retardation, syndromic, X-linked, type 16 (MRX-16)) (AAS)
OMIM ID 305400
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 37
Phenotype entries for this disease 37
Associated with 1 gene FGD1
Associated tissues -
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Individuals

37 entries on 1 page. Showing entries 1 - 37.
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00058640 - PubMed: Fryns 1992 - M - - - - 0 - - AAS;MRX-16 - FGD1 FGD1 1 1 Emmelien Aten
00058641 - PubMed: Orrico 2004 identical twin with patient 91 M - Italy - - 0 - - AAS;MRX-16 short stature(121cm o5th percentile), joint hypermobility, small and short hands and feet, brachydactyly and Camptodactyly FGD1 FGD1 1 1 Emmelien Aten
00058642 - PubMed: Orrico 2004 identical twin with patient 90 M - Italy - - 0 - - AAS;MRX-16 short stature (121cm o5th percentile), joint hypermobility, small and short hands and feet, brachydactyly and camptodactyly FGD1 FGD1 1 1 Emmelien Aten
00058643 - PubMed: Orrico 2004 - M - Portugal - - 0 - - AAS;MRX-16 impairment in expressive language and speech articulation difficulties, emotional behaviour problems with occasional temper tantrums, short stature (132.5 cm; 5th percentile), moderate rhizomelia of upper and lower limbs, short hands with cutaneous syndactyly of fingers, a surgically corrected right-sided cryptorchidism and over-riding scrotum. Craniofacial findings included relative macrocephaly, frontal bossing, hypertelorism (inner canthal distance 3.5 cm; 497th percentile – outer canthal distance 11 cm; 497th percentile), down slant of palpebral fissures, short nose with anteverted nostrils, wide philtrum and thin upper lip FGD1 FGD1 1 1 Emmelien Aten
00058644 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Short fifth finger/Clinod, Abnormal auricles, Broad feet, Cryptorchidism, FGD1 FGD1 1 1 Emmelien Aten
00058645 - PubMed: Orrico 2004 - M - - European - 0 - - AAS;MRX-16 dysmorphic facial appearance, shawl scrotum and short stature, hypertelorism (inner canthal distance 3.9 cm; 497th percentile – outer canthal distance 11.5 cm; 497th percentile), left palpebral ptosis and strabismus, a short neck, camptodactyly and brachydactyly FGD1 FGD1 1 1 Emmelien Aten
00058646 - PubMed: Orrico 2007 - M - Argentina ? - 0 - - AAS;MRX-16 he is a boy of short stature (151 cm; 3th centile) with OFC of 54 cm (25th centile), widow’s peak, synophrys, inner canthal distance of 3.5 cm (90th centile) and outer canthal distance 10 cm (97th centile). Dysmorphic features include downslanting palpebral fissures, palpebral ptosis, short and convex nose, long philtrum, right maxillary hypoplasia with right microtia, curved linear dimple below the lower lip, short neck, pectus excavatum, brachydactyly with mild soft tissue webbing between the fingers, single crease in the fifth fingers FGD1 FGD1 1 1 Emmelien Aten
00058647 - PubMed: Orrico 2004 - M - - European - 0 - - AAS;MRX-16 unusual facial appearance and short stature. hypertelorism (inner canthal distance 3.9 cm; 497th percentile – outer canthal distance 11.5 cm; 497th percentile), antimongoloid slant of palpebral fissures, widow’s peak, small nose with anteverted nares, long philtrum, cutaneous syndactyly with brachydactyly and clinodactyly of the Vth fingers, transverse palmar crease. The child also had a shawl scrotum, right cryptorchidism, a small right inguinal hernia and an umbilical hernia. FGD1 FGD1 1 1 Emmelien Aten
00058648 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Widow's peak, Abnormal auricles, FGD1 FGD1 1 1 Emmelien Aten
00058649 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Interdigital webbing, Camptodactily, Widow's peak, Ptosis, Broad feet, Cryptorchidism, ingui./umbilical hernia, FGD1 FGD1 1 1 Emmelien Aten
00058650 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Crease below lower lip, Interdigital webbing, Short fifth finger/Clinod, Camptodactily, Ptosis, Downward slant palp., Broad feet, FGD1 FGD1 1 1 Emmelien Aten
00058651 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Crease below lower lip, Short fifth finger/Clinod, Widow's peak, Ptosis, Abnormal auricles, ingui./umbilical hernia, FGD1 FGD1 1 1 Emmelien Aten
00058652 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Crease below lower lip, Short fifth finger/Clinod, Widow's peak, Ptosis, Downward slant palp., Broad feet, Prominent umbilicus, FGD1 FGD1 1 1 Emmelien Aten
00058653 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Crease below lower lip, Short fifth finger/Clinod, Camptodactily, Widow's peak, Downward slant palp., Abnormal auricles, Joint hyperextension, Broad feet, Cryptorchidism, FGD1 FGD1 1 1 Emmelien Aten
00058654 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Crease below lower lip, Interdigital webbing, Short fifth finger/Clinod, Widow's peak, Abnormal auricles, Joint hyperextension, Broad feet, Cryptorchidism, FGD1 FGD1 1 1 Emmelien Aten
00058655 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Short fifth finger/Clinod, Camptodactily, Broad feet, Cryptorchidism, FGD1 FGD1 1 1 Emmelien Aten
00058656 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Crease below lower lip, Widow's peak, Downward slant palp., Abnormal auricles, Broad feet, FGD1 FGD1 1 1 Emmelien Aten
00058657 - PubMed: Orrico 2010 - M - - European - 0 - - AAS;MRX-16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Interdigital webbing, Short fifth finger/Clinod, Camptodactily, Widow's peak, Cryptorchidism, FGD1 FGD1 1 1 Emmelien Aten
00058658 - PubMed: Orrico 2004 - M - - European - 0 - - AAS;MRX-16 round face, hypertelorism, epicanthic folds, widow’s peak, small nose with anteverted nares, long philtrum, cutaneous syndactyly with brachydactyly and clinodactyly of the IVth and Vth fingers, right inguinal hernia, umbilical hernia, shawl scrotum, short stature and bilateral varus metatarsus FGD1 FGD1 1 1 Emmelien Aten
00058659 - PubMed: Orrico 2005 - M - - ? - 0 - - AAS;MRX-16 short stature (159 cm, 3rd centile), low weight (48 kg, 5th centile), and normal cephalic circumference (54 cm). Inner canthal distance was 2.7 cm (5th centile), interpupillary distance was 5 cm (5th centile), and outer canthal distance was 9.5 cm (90th centile). downslanting palpebral fissures with bilateral ptosis and strabismus, broad and bulbous nose, medial extension of eyebrows, dysmorphic and low set auricles, maxillary hypoplasia, ogival palatus, protuberant lips, and relative micrognathia. He was hypotonic and had hyperextensible joints. He had brachydactyly (middle finger length 7 cm, 3rd centile; palm length 10 cm, 25th centile) with mild webbing between the third and fourth fingers and bilateral single transverse palmar creases. There was a prominent umbilicus and a narrow chest with pectus excavatus. Hypernasal speech was noted. FGD1 FGD1 1 1 Emmelien Aten
00058660 - PubMed: Orrico 2004 - M - - European - 0 - - AAS;MRX-16 short stature (125 cm; 3rd percentile) and mild learning and behavioural disabilities (hyperactivity and attention deficit). Clinical examination revealed hypertelorism (inner canthal distance 3.5 cm; 97th percentile – outer canthal distance 9.5 cm; 97th percentile), left palpebral ptosis, short nose with anteverted nostrils, long philtrum, posteriorly angulated low-set ears, prominent umbilicus, hyperextensible joints and brachydactyly with cutaneous II–V syndactyly FGD1 FGD1 1 1 Emmelien Aten
00058661 - PubMed: Orrico 2004 - M - - European - 0 - - AAS;MRX-16 long face, telecanthus (inner canthal distance 3.7 cm; 497th percentile – outer canthal distance 8.5 cm; 80th percentile), short nose with anteverted nostrils, long philtrum, micrognatia and posteriorly angulated low-set ears. He had short stature (105 cm; o3th percentile), pectus excavatum, hyperextensible joints, brachydactyly with cutaneous I–V syndactyly, single palmar creases, hypospadias and right cryptorchidism FGD1 FGD1 1 1 Emmelien Aten
00058662 - PubMed: Orrico 2004 - M - - European - 0 - - AAS;MRX-16 widow’s peak, hypertelorism, epicanthic folds, down-slanting palpebral fissures with bilateral palpebral ptosis, short and broad nose with anteverted nostrils, IVth and Vth fingers camptodactyly, shawl scrotum and inguinal hernias FGD1 FGD1 1 1 Emmelien Aten
00058663 - PubMed: Orrico 2004 - M - Ireland ? - 0 - - AAS;MRX-16 hypertelorism , slight downward slant palpebral fissures, short nose, broad philtrum, broad mouth, short broad hand, shawl scrotum . The patient has progressed through puberty satisfactorily attaining a normal height (175 cm). FGD1 FGD1 1 1 Emmelien Aten
00058664 - PubMed: Orrico 2000 - M - Italy ? - 0 - - AAS;MRX-16 short stature (87 cm, 32 S.D.) and normal intelligence with round faces, prominent foreheads with widow's peak, hypertelorism, antimongoloid slant of palpebral fessures, bilateral ptosis, hypoplasia of the midface, short and broad nose with anteverted nostrils and long broad philtrum, small hands and feet; the typical genital appearance reported in AAS (shawl scrotum) was not evident, while bilateral criptorchidism had been surgically corrected FGD1 FGD1 1 1 Emmelien Aten
00058665 - PubMed: Kaname 2006 - M - - ? - 0 - - AAS;MRX-16 Short stature, Frontal bossing, Hypertelorism, Blepharoptosis, Broad hands and feet , Short fingers, Interdigital webbing, Hyperextensible proximal interphalangeal joints , Flexion of distal interphalangeal joints, Shawl scrotum , Attention deficit/hyperactivity disorder FGD1 FGD1 1 1 Emmelien Aten
00058666 - PubMed: Kaname 2006 - M - - ? - 0 - - AAS;MRX-16 Aspergersyndrome; short stature, Frontal bossing, Hypertelorism, Broad hands and feet, Short fingers, Interdigital webbing, Hyperextensible proximal interphalangeal joints, Flexion of distal interphalangeal joints, Shawl scrotum FGD1 FGD1 1 1 Emmelien Aten
00058667 - PubMed: Pasteris 1994 - M - - ? - 0 - - AAS;MRX-16 - FGD1 FGD1 1 1 Emmelien Aten
00058668 - PubMed: Bottani 2007 - M - - Kosovo-Albanian - 0 - - AAS;MRX-16 shawl scrotum, pectus excavatum, unilateral clinodactyly V, and a characteristic over-extension of the proximal joint with flexion of the distal joint of the fingers. His toes II–IV displayed a valgus deviation, and the spacing between the first and second toe was increased and a unilateral brain malformation FGD1 FGD1 1 1 Emmelien Aten
00058669 - PubMed: Schwartz 2000 cousin of IT M - Italy - - 0 - - AAS;MRX-16 Short stature, relative macrocephaly and a strikingly similar face with ocular hypertelorism, down- slanting palpebral fissures, ptosis of the upper eyelids, flat philtrum, bow shape of the upper lip and pointed chin. They also had brachydactyly, typical hyperextensibility of the proximal and incomplete extensibility of the distal interphalangeal joints, and transverse palmar crease. Also noted were umbilical hernia, dorsal groove of the penis. FGD1 FGD1 1 1 Emmelien Aten
00058670 - PubMed: Schwartz 2000 cousin of FC M - Italy - - 0 - - AAS;MRX-16 Short stature, relative macrocephaly and a strikingly similar face with ocular hypertelorism, down- slanting palpebral fissures, ptosis of the upper eyelids, flat philtrum, bow shape of the upper lip and pointed chin. They also had brachydactyly, typical hyperextensibility of the proximal and incomplete extensibility of the distal interphalangeal joints, and transverse palmar crease. Also noted were inguinal hernia, dorsal and shawl scrotum . FGD1 FGD1 1 1 Emmelien Aten
00058671 - PubMed: Schwartz 2000 - M - Germany ? - 0 - - AAS;MRX-16 Short stature, widow’s peak, hypertelorism, downslanting palpebral fissures, ptosis of the upper eyelids and a short nose with anteverted nares, brachydactyly and cutaneous syndactyly of both hands and a shawl scrotum. FGD1 FGD1 1 1 Emmelien Aten
00058672 - PubMed: Shalev 2006 - M - - Arab - 0 - - AAS;MRX-16 weight and height a just below the 3rd centile, round face, hypertelorism, ptosis of eyelids, and small nose with upturned nares. The philtrum was wide and the auricles were hypoplastic at their upper segment. He had pigeon chest. The fingers were short, with syndactyly of all fingers and camptodactyly of 3rd finger. A bilateral transverse line was present on both palms, and a single flexion crease was found on both 5th fingers. A shawl scrotum was present with otherwise normal genitalia. FGD1 FGD1 1 1 Emmelien Aten
00058673 - PubMed: Bedoyan 2009 - M - - - - 0 - - AAS;MRX-16 Ptosis and camptodactyly, his weight was less than 5th percentile, height was 1st percentile and head circumference was 25th percentile. Posteriorly rotated ears, bilateral ptosis, ocular hypertelorism, downslanting palpebral fissures, small upturned nose, high arched palate, bilateral camptodactyly involving 3rd, 4th, and 5th fingers and mild shawl scrotum with right inguinal hernia. FGD1 FGD1 1 1 Emmelien Aten
00058674 - - - - - - - - 0 - - AAS;MRX-16 - FGD1 FGD1 1 1 Emmelien Aten
00058675 - - - - - - - - 0 - - AAS;MRX-16 - FGD1 FGD1 1 1 Emmelien Aten
00058676 - PubMed: Aten 2013 3-generation family, affected grandfather and 2 grandsons, unaffected heterozygous carrier daugther M no Netherlands - - 0 - - AAS;MRX-16 Short stature, hypertelorism, brachydactyly, Shawl scrotum, Unguinal hernia, Joint laxity. C9orf72, FGD1, OXGR1 C9orf72, FGD1, OXGR1 3 3 Johan den Dunnen
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