Brachydactyly, and Hypospadias

Diseases related with Brachydactyly and Hypospadias

In the following list you will find some of the most common rare diseases related to Brachydactyly and Hypospadias 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 MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Low match ABRUZZO-ERICKSON SYNDROME


Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

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Other less relevant matches:

Low match SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7


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 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Low match ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

Low match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Low match OSTEOGLOSPHONIC DYSPLASIA


Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

Low match PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME


Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Low match HAND-FOOT-GENITAL SYNDROME


Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

HAND-FOOT-GENITAL SYNDROME Is also known as hfgs|hand-foot-uterus syndrome|hfu

Related symptoms:

  • Strabismus
  • Brachydactyly
  • Ventricular septal defect
  • Renal insufficiency
  • Hypospadias


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HAND-FOOT-GENITAL SYNDROME

Low match HYPERTELORISM, TEEBI TYPE


Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Hypospadias

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Clinodactyly of the 5th finger Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion Global developmental delay Anteverted nares Depressed nasal bridge Delayed speech and language development Hypertelorism Cleft palate Atrial septal defect High palate Ventricular septal defect Short toe Short metatarsal Short phalanx of finger Finger clinodactyly Short metacarpal Round face Mandibular prognathia Epicanthus Short nose Spinal canal stenosis Frontal bossing Clinodactyly Downslanted palpebral fissures Chordee Cleft lip Strabismus Wide nasal bridge Oral cleft Low-set ears

Rare Symptoms - Less than 30% cases


Hypoplastic scapulae Scoliosis Bowing of the long bones Short foot Hypoplastic toenails Limb undergrowth Intrauterine growth retardation Short distal phalanx of finger Renal insufficiency Dimple chin Obesity Diabetes mellitus Hyperactivity Autism Brachycephaly Craniosynostosis Congenital hypothyroidism Prominent forehead Highly arched eyebrow Red hair Short thumb Fair hair Blue irides Choanal atresia Ptosis Long philtrum Mild short stature Generalized hypotonia Cone-shaped epiphysis Increased intracranial pressure Accelerated skeletal maturation Thin upper lip vermilion Short neck Micrognathia Broad palm Hydronephrosis Finger syndactyly Micromelia Syndactyly Protruding ear Polydactyly Micropenis Postaxial polydactyly Failure to thrive Postaxial hand polydactyly Tetralogy of Fallot Abnormality of the skeletal system Patent ductus arteriosus High hypermetropia Preauricular pit Synophrys Joint hypermobility Downturned corners of mouth Bilateral cryptorchidism Ectopic kidney Hypertrichosis Tapered finger Delayed myelination Apraxia Blue sclerae Natal tooth Heart murmur Exotropia Deep philtrum Abnormal vertebral morphology Atrioventricular block Short chin Omphalocele Congenital diaphragmatic hernia Long palpebral fissure Shortening of all middle phalanges of the fingers Shawl scrotum Broad metacarpals Abnormality of the clavicle Spondyloepimetaphyseal dysplasia Cloverleaf skull Nasal obstruction Broad eyebrow Renal phosphate wasting Abnormality of the nasopharynx Abnormal bone ossification Advanced eruption of teeth Broad phalanx Broad metatarsal Pseudoarthrosis Cerebellar hypoplasia Unerupted tooth Multiple unerupted teeth Abnormality of the helix Seizures Widow's peak Lipoma Sprengel anomaly Feeding difficulties Motor delay Macrocephaly Hypoplasia of the corpus callosum Constipation Hypertonia Clonus Broad nasal tip Short hallux Spontaneous abortion Broad foot Hypoplastic fifth toenail Sacral dimple Abnormality of the outer ear Abnormality of the urinary system Abnormality of the hand Penile hypospadias Proximal placement of thumb Bifid scrotum Synostosis of carpal bones Short 5th finger Short 2nd toe Recurrent urinary tract infections Short 1st metacarpal Abnormality of the uterus Bicornuate uterus Delayed ossification of carpal bones Ureteropelvic junction obstruction Pyelonephritis Small thenar eminence Uterus didelphys Short first metatarsal Ulnar deviation of the 2nd finger Abnormality of the urethra Pseudoepiphyses Delayed tarsal ossification Urinary incontinence Hallux varus Pectus excavatum Oculomotor apraxia Everted lower lip vermilion Wide nose Thick eyebrow Thin vermilion border Hypermetropia Prominent nasal bridge Widely spaced teeth Joint laxity Umbilical hernia Proptosis Arrhythmia Hernia Vesicoureteral reflux Bilateral ptosis Patent foramen ovale Supernumerary nipple Narrow nasal bridge Syringomyelia Central hypotonia Longitudinal vaginal septum Delayed CNS myelination Tethered cord Lower limb hypertonia Narrow nasal tip Cerebral white matter hypoplasia Microtia Abnormal dermatoglyphics Hypothyroidism Shallow orbits Abnormal palate morphology Glandular hypospadias Hearing impairment Sensorineural hearing impairment Abnormality of the dentition Macrotia Conductive hearing impairment Coloboma Toe syndactyly Facial asymmetry Flat face Iris coloboma Microcornea Radioulnar synostosis Urethral stricture Chorioretinal coloboma Ulnar deviation of finger Abnormal localization of kidney Coronal hypospadias Respiratory insufficiency Edema Sparse hair Dolichocephaly Narrow chest Hepatic failure Pulmonary hypoplasia Renal cyst Ascites Hydrometrocolpos Urogenital sinus anomaly Microdontia Adrenal hypoplasia Ventriculomegaly Hydrocephalus Agenesis of corpus callosum Deeply set eye Abnormality of the pinna Cleft upper lip Wide intermamillary distance Ambiguous genitalia Sandal gap Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Depressed nasal tip Ectopic anus Barrel-shaped chest Shield chest Ulnar deviation of the hand Microphallus Ulnar deviation of the hand or of fingers of the hand Anal atresia Aganglionic megacolon Multicystic kidney dysplasia Renal hypoplasia/aplasia Abnormality of the metacarpal bones Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Nail dysplasia Renal hypoplasia Hypophosphatemia Chronic rhinitis Abnormal facial shape Skeletal dysplasia Joint stiffness Small hand Hypoplasia of the maxilla Asthma Underdeveloped nasal alae Eczema Osteoarthritis Type I diabetes mellitus Rhinitis Cone-shaped epiphyses of the phalanges of the hand Respiratory distress Growth delay Depressivity Inguinal hernia Delayed skeletal maturation Severe short stature Platyspondyly Short palm Abnormal form of the vertebral bodies Rhizomelia Plagiocephaly Disproportionate short-limb short stature Reduced number of teeth Increased susceptibility to fractures Failure to thrive in infancy Hypertension Congenital craniofacial dysostosis Fine hair Fused teeth Hydrops fetalis Short ribs Short long bone Polycystic kidney dysplasia Aplasia/Hypoplasia of the eyebrow Thoracic hypoplasia Mesomelia Agenesis of permanent teeth Cystic hygroma Flat acetabular roof Thoracic dysplasia Bilateral postaxial polydactyly Short lingual frenulum Short uvula Absent/hypoplastic paranasal sinuses Hypogonadism Growth hormone deficiency Specific learning disability Hypocalcemia Hyperphosphatemia Elevated circulating parathyroid hormone level Pseudohypoparathyroidism Hypoplastic vertebral bodies Elevated calcitonin Cerebral venous thrombosis Narrow vertebral interpedicular distance Low urinary cyclic AMP response to PTH administration Hypoplasia of the nasal bone Female pseudohermaphroditism



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