Abnormal facial shape, and Ambiguous genitalia

Diseases related with Abnormal facial shape and Ambiguous genitalia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape 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 GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF


Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Low match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

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Other less relevant matches:

Low match SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13


Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

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

Low match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED


CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Low match SIFRIM-HITZ-WEISS SYNDROME; SIHIWES


Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Ambiguous genitalia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Ambiguous genitalia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micropenis Cleft palate Brachydactyly Microcephaly Postaxial polydactyly Generalized hypotonia Talipes equinovarus Polydactyly Intellectual disability Micrognathia Growth delay Hearing impairment Coarse facial features Severe short stature Abnormal cardiac septum morphology Motor delay Macrocephaly Limb undergrowth Patent ductus arteriosus Epicanthus Microphthalmia Anteverted nares Hypospadias Abnormality of the skeletal system Ventriculomegaly Hydrocephalus Midface retrusion Recurrent urinary tract infections Agenesis of corpus callosum Cleft lip Micromelia Respiratory insufficiency Renal dysplasia

Rare Symptoms - Less than 30% cases


Narrow face Skeletal dysplasia Decreased fetal movement Anal atresia Pulmonary hypoplasia Long face Renal hypoplasia Omphalocele Bowing of the long bones Scoliosis Rhizomelia Autism Redundant skin Hydronephrosis Clinodactyly of the 5th finger Seizures Short palpebral fissure Oligohydramnios Vesicoureteral reflux Abnormality of the kidney Strabismus Short ribs Flat face Horizontal ribs Bifid tongue Thoracic dysplasia Flat acetabular roof Bell-shaped thorax Thoracic hypoplasia Preaxial polydactyly Small for gestational age Renal insufficiency Ventricular septal defect Failure to thrive Intrauterine growth retardation Oral cleft Respiratory distress Flexion contracture Feeding difficulties Frontal bossing Relative macrocephaly Atrial septal defect Wide nasal bridge Prominent forehead Abnormality of the pinna Cleft upper lip Small hand Deeply set eye Feeding difficulties in infancy Respiratory failure Male pseudohermaphroditism Dysphasia Volvulus Profound global developmental delay Abnormal hemoglobin U-Shaped upper lip vermilion Abnormality of fontanelles Protruding ear Abnormality of the male genitalia Recurrent fractures Disproportionate short-limb short stature Hypocalcemia Cardiac arrest Progressive microcephaly Abdominal distention Ascites Polymicrogyria Depressed nasal bridge Short philtrum Craniosynostosis Osteopenia Pneumonia Clinodactyly Short nose Self-injurious behavior Aganglionic megacolon Encephalitis Cerebral cortical atrophy Gait imbalance Sensorineural hearing impairment Muscular hypotonia Anemia Myopia Optic atrophy Blindness Abnormality of the dentition Behavioral abnormality Depressivity Syndactyly Constipation Gastroesophageal reflux Tented upper lip vermilion Malar flattening Telecanthus Joint stiffness Spastic paraplegia Nausea and vomiting Abnormality of movement Everted lower lip vermilion Macroglossia Hypoplasia of penis Thick lower lip vermilion Depressed nasal ridge Abnormality of the face Growth abnormality Severe intrauterine growth retardation Hyperostosis Humeroradial synostosis Dislocated radial head Microglossia Stenosis of the external auditory canal Hypoplastic scapulae Hypoplastic iliac wing Short femur Hypoplastic ilia Redundant neck skin Ambiguous genitalia, male Fibular aplasia Hydranencephaly Wrist flexion contracture Long clavicles 2-3 toe syndactyly Hypoplastic ischia Ambiguous genitalia, female Hypoplastic pubic bone 4-5 toe syndactyly Facial hirsutism Alveolar ridge overgrowth Microtia, first degree Mesomelic leg shortening Abnormality of the skull base Prominent protruding coccyx Absent proximal finger flexion creases Anterior rounding of vertebral bodies Mesomelia Narrow palpebral fissure Flared metaphysis Aplasia/hypoplasia of the extremities Hypokinesia Slender long bone Thin ribs Aniridia Anteriorly placed anus Radial bowing Asplenia Short hallux Decreased skull ossification Cloverleaf skull Lethal skeletal dysplasia Ankyloglossia Thin clavicles Congenital hip dislocation Overtubulated long bones Hypoplastic spleen Short neck Posteriorly rotated ears Camptodactyly Blepharophimosis Hip dislocation Toe syndactyly Microcornea Low posterior hairline Joint contracture of the hand Elbow flexion contracture Short clavicles Tetralogy of Fallot Neurodevelopmental delay Lobulated tongue Triangular face Spontaneous abortion Microretrognathia Retrognathia Molar tooth sign on MRI Natal tooth Occipital encephalocele Delayed skeletal maturation Hypoplastic pelvis Cleft soft palate Ulnar deviation of the hand or of fingers of the hand Squared iliac bones Finger clinodactyly Hypoplastic facial bones Unicoronal synostosis Microphallus Ulnar deviation of the hand Shield chest Intestinal malrotation Abnormality of the genital system Polycystic kidney dysplasia Hand polydactyly Metaphyseal widening Cone-shaped epiphysis Metaphyseal irregularity Decreased body weight Encephalocele Femoral bowing Scaphocephaly Recurrent respiratory infections Asthma Convex nasal ridge Hernia Congenital diaphragmatic hernia Hypertrichosis Abnormal lung morphology Pachygyria Immunodeficiency Multicystic kidney dysplasia Clitoral hypertrophy Cortical gyral simplification Recurrent lower respiratory tract infections Cerebellar vermis hypoplasia Chronic lung disease Pulmonary artery hypoplasia Cerebellar hypoplasia Macrotia Penoscrotal hypospadias Narrow chest Unilateral cryptorchidism Melanocytic nevus Renal cyst Prominent nose Dandy-Walker malformation Pterygium Hypoplasia of the ulna Metaphyseal dysplasia Short femoral neck Decreased numbers of nephrons Chronic kidney disease Deep philtrum Ectopic kidney Poor eye contact Thickened helices Hyperechogenic kidneys Anteverted ears Uterus didelphys Hypoplastic helices Urethral valve Bifid ureter Ptosis Spina bifida occulta Abnormal heart morphology Upslanted palpebral fissure Hypogonadism Astigmatism Tapered finger Postural instability Polyhydramnios Coarctation of aorta Wormian bones Arnold-Chiari malformation Trigonocephaly Cupped ear Abnormality of the urinary system Horseshoe kidney Transposition of the great arteries Scrotal hypoplasia Fibular hypoplasia Enlarged kidney Lateral clavicle hook Cerebellar cyst Absent tibia Hamartoma of tongue Acetabular spurs Metaphyseal spurs Barrel-shaped chest Depressed nasal tip Adrenal hypoplasia Delayed speech and language development Aplasia/Hypoplasia of the corpus callosum Spina bifida Hypoplasia of the corpus callosum Holoprosencephaly Dilatation Sandal gap Thin upper lip vermilion Abnormality of the nervous system Wide intermamillary distance Autistic behavior Microtia Poor speech Stage 5 chronic kidney disease Renal agenesis Abnormality of the joint spaces of the elbow



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