Brachydactyly, and Ambiguous genitalia

Diseases related with Brachydactyly and Ambiguous genitalia

In the following list you will find some of the most common rare diseases related to Brachydactyly and Ambiguous genitalia that can help you solving undiagnosed cases.


Top matches:

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Low match SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 Is also known as srps2b|polydactyly with neonatal chondrodystrophy, type iii|verma-naumoff syndrome|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type i|polydactyly with neonatal chondrodystrophy, type i|srps3|short rib-polydactyly syndrome, type iib|s

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

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Other less relevant matches:

Low match SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Low match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Low match OSTEOCRANIOSTENOSIS


Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Low match PELVISCAPULAR DYSPLASIA


Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Low match FILIPPI SYNDROME


Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Low match SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Low match OROFACIODIGITAL SYNDROME TYPE 4


Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Top 5 symptoms//phenotypes associated to Brachydactyly and Ambiguous genitalia

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Severe short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Ambiguous genitalia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Oral cleft

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Cleft lip

Uncommon Symptoms - Between 30% and 50% cases


Short ribs Pulmonary hypoplasia Hydrocephalus Talipes equinovarus Intrauterine growth retardation Thoracic dysplasia Limb undergrowth Respiratory insufficiency Ventricular septal defect Global developmental delay Macrocephaly Failure to thrive Microcephaly Hamartoma of tongue Micrognathia Syndactyly Low-set ears Micropenis Micromelia Postaxial polydactyly Cleft upper lip Agenesis of corpus callosum Preaxial polydactyly Short philtrum Horizontal ribs Lateral clavicle hook Clinodactyly Wide nasal bridge Epicanthus Clinodactyly of the 5th finger Flat face Growth delay Intestinal malrotation Abnormality of the skeletal system Seizures Renal cyst Posteriorly rotated ears Cryptorchidism Intellectual disability Abnormality of the pinna Microglossia Median cleft lip Mesomelia Narrow chest Toe syndactyly Frontal bossing Skeletal dysplasia

Rare Symptoms - Less than 30% cases


Lobulated tongue Hepatic fibrosis Hydronephrosis Cerebral cortical atrophy Muscular hypotonia Optic atrophy Preaxial hand polydactyly Short tibia Median cleft lip and palate Abnormality of the kidney Hypoplastic scapulae Depressed nasal ridge Talipes Bilateral single transverse palmar creases Short neck Hearing impairment Redundant skin Disproportionate short-limb short stature Bowing of the long bones Oligohydramnios Ascites Single transverse palmar crease Small for gestational age Short finger Wide nose Prominent forehead Microphthalmia Finger syndactyly Short nose Specific learning disability High forehead Proptosis Generalized hypotonia Dysphasia Postaxial hand polydactyly Anteverted nares Renal dysplasia Pancreatic fibrosis Wide intermamillary distance Hand polydactyly Deeply set eye Hypospadias Bifid tongue Holoprosencephaly Abnormality of the genital system Anal atresia Respiratory distress Midface retrusion Acetabular spurs Polycystic kidney dysplasia Motor delay Femoral bowing Depressed nasal bridge Hepatomegaly Polyhydramnios Short long bone Craniosynostosis Brachycephaly Metaphyseal irregularity Edema Atrial septal defect Narrow nasal bridge Abnormality of digit Supernumerary nipple Perineal fistula Cerebral cortical hemiatrophy Limb hypertonia Cutaneous finger syndactyly Short middle phalanx of finger Limb dystonia Aphasia Renal hypoplasia/aplasia Narrow nose Low hanging columella High anterior hairline Echolalia Broad columella Cutaneous syndactyly of toes Rectal atresia Congenital microcephaly Anteverted ears Narrow naris Aplastic/hypoplastic toenail Aplasia/Hypoplasia of the tibia Clinodactyly of the 5th toe Tongue nodules Absent testis Short chin Bilateral lung agenesis Sparse hair Thin vermilion border Smooth philtrum Paraplegia Synophrys Neurological speech impairment Broad forehead Prominent nasal bridge Postnatal growth retardation Thick eyebrow Intellectual disability, moderate Muscular hypotonia of the trunk Thin upper lip vermilion Microtia, third degree Monorchism Delayed skeletal maturation Dystonia Bulbous nose Hirsutism Mutism Postnatal microcephaly Widely spaced teeth Cutaneous syndactyly Aplasia/Hypoplasia of the mandible Frontal hirsutism Finger clinodactyly Generalized hirsutism Long eyelashes Decreased body weight Hypodontia Hypertrichosis Fine hair Small nail Microdontia Oral synechia Underdeveloped nasal alae Limitation of joint mobility Enlarged epiphyses Short palm 2-4 toe syndactyly Primary adrenal insufficiency Hamartoma Occipital encephalocele Recurrent respiratory infections Submucous cleft hard palate Pectus excavatum Abnormality of cardiovascular system morphology Cerebral atrophy Retrognathia Foot polydactyly Cerebellar atrophy Feeding difficulties High palate Absent internal genitalia Intrahepatic bile duct cysts Abnormal joint morphology Conductive hearing impairment Bowing of the arm Interphalangeal joint contracture of finger Joint dislocation Laryngomalacia Genu varum Encephalocele Split hand Choanal atresia Hypoplastic toenails Camptodactyly of finger Decreased testicular size Renal agenesis Bifid uvula Abnormality of the ear High, narrow palate Abnormality of eye movement Rectovaginal fistula Abnormality of the tongue Abnormal oral frenulum morphology Accessory oral frenulum Bowing of the legs Anophthalmia Patent foramen ovale Short toe Omphalocele Renal hypoplasia Abnormality of the gingiva Milia Dandy-Walker malformation Short foot Abnormality of the outer ear Inguinal hernia Patent ductus arteriosus Splenomegaly Short thorax Broad palm Pancreatic dysplasia Cystic renal dysplasia Fetal ascites Porencephalic cyst Periportal fibrosis Subcortical cerebral atrophy Accessory spleen Pancreatic cysts Atelectasis Natal tooth Preaxial foot polydactyly Single umbilical artery Broad foot Protuberant abdomen Abnormal oral mucosa morphology Anencephaly Hypoplastic nipples Hypertonia Ankyloglossia Intellectual disability, severe Anemia Depressivity Behavioral abnormality Abnormality of the dentition Blindness Myopia Flexion contracture Sensorineural hearing impairment Autism Disproportionate shortening of the tibia Postaxial polysyndactyly of foot Polysyndactyly of hallux Shortening of the tibia Hypoplasia of the epiglottis Spondylometaphyseal dysplasia Constipation Gastroesophageal reflux Dilation of lateral ventricles Thick lower lip vermilion Self-injurious behavior Encephalitis Tented upper lip vermilion Abnormality of the face Recurrent urinary tract infections Aganglionic megacolon Hypoplasia of penis Telecanthus Macroglossia Everted lower lip vermilion Abnormality of movement Nausea and vomiting Spastic paraplegia Joint stiffness Feeding difficulties in infancy Abnormality of the larynx Tricuspid regurgitation Volvulus Shield chest Metaphyseal widening Small hand Scoliosis Ulnar deviation of the hand or of fingers of the hand Microphallus Ulnar deviation of the hand Barrel-shaped chest Hypoplasia of the ulna Depressed nasal tip Adrenal hypoplasia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Sandal gap Malar flattening Ventriculomegaly Cone-shaped epiphysis Thoracic hypoplasia Hydrops fetalis Pectus carinatum Pachygyria Cerebellar vermis hypoplasia Retinal dystrophy Astigmatism Hypermetropia Platyspondyly Abnormal heart morphology Metaphyseal dysplasia Delayed speech and language development Metaphyseal spurs Absent tibia Cerebellar cyst Enlarged kidney Fibular hypoplasia Transposition of the great arteries Male pseudohermaphroditism Profound global developmental delay Downslanted palpebral fissures Stenosis of the external auditory canal Fibular aplasia Ambiguous genitalia, male Redundant neck skin Hypoplastic ilia Short femur Hypoplastic iliac wing Bell-shaped thorax Wrist flexion contracture Dislocated radial head 2-3 toe syndactyly Narrow palpebral fissure Congenital hip dislocation Elbow flexion contracture Joint contracture of the hand Rhizomelia Hydranencephaly Humeroradial synostosis Low posterior hairline Abnormality of the skull base Visual impairment Spasticity Abnormality of the joint spaces of the elbow Anterior rounding of vertebral bodies Absent proximal finger flexion creases Prominent protruding coccyx Mesomelic leg shortening Long clavicles Microtia, first degree Alveolar ridge overgrowth Facial hirsutism 4-5 toe syndactyly Hypoplastic pubic bone Ambiguous genitalia, female Hypoplastic ischia Short palpebral fissure Microcornea Abnormal hemoglobin Abdominal distention Hyperostosis Growth abnormality Hypocalcemia Cardiac arrest Progressive microcephaly Decreased fetal movement Recurrent fractures Hypokinesia Polymicrogyria Coarse facial features Osteopenia Pneumonia Abnormality of the male genitalia Abnormality of fontanelles U-Shaped upper lip vermilion Flared metaphysis Slender long bone Hip dislocation Aplasia/hypoplasia of the extremities Blepharophimosis Camptodactyly Strabismus Hypoplastic spleen Overtubulated long bones Thin clavicles Lethal skeletal dysplasia Thin ribs Cloverleaf skull Decreased skull ossification Short hallux Asplenia Radial bowing Severe intrauterine growth retardation Aniridia Absent crus of helix



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