Delayed speech and language development, and Ambiguous genitalia

Diseases related with Delayed speech and language development and Ambiguous genitalia

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


Top matches:

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7 Is also known as ;pch7; pontocerebellar hypoplasia-46,xy disorder of sex development syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: SCTID DOID UMLS OMIM ORPHANET MONDO

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7

Low match ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID

More info about ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Low match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Motor delay


SOURCES: UMLS OMIM MONDO

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

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Other less relevant matches:

Low match JOUBERT SYNDROME 15; JBTS15

Joubert syndrome-15 is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by Lee et al., 2012).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

JOUBERT SYNDROME 15; JBTS15 Is also known as ;acs

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: SCTID ORPHANET UMLS OMIM

More info about JOUBERT SYNDROME 15; JBTS15

Low match SECKEL SYNDROME 9; SCKL9

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: UMLS MONDO DOID OMIM

More info about SECKEL SYNDROME 9; SCKL9

Low match LISSENCEPHALY, X-LINKED, 2; LISX2

X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to syndromic (OMIM ) and nonsyndromic (OMIM ) mental retardation (Kato et al., 2004; Wallerstein et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

LISSENCEPHALY, X-LINKED, 2; LISX2 Is also known as lissencephaly, x-linked, with ambiguous genitalia;xlag, xlisg;x-linked lissencephaly with ambiguous genitalia; x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; xlag (x-linked lissencephaly with abnormal genitalia) syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MONDO UMLS GARD MESH SCTID ORPHANET OMIM

More info about LISSENCEPHALY, X-LINKED, 2; LISX2

Low match OPITZ GBBB SYNDROME, TYPE I; GBBB1

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz gbbb syndrome, x-linked, opitz syndrome;os, opitz syndrome, x-linked;osx, opitz-g syndrome, type i;ogs1, opitz bbbg syndrome, type i;bbbg1, hypertelorism with esophageal abnormality and hypospadias, hypertelorism-hypospadias syndrome, telecanthus-hypospadias syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pica
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

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:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Low match COUSIN SYNDROME

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

COUSIN SYNDROME Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature, pelviscapular dysplasia;cousin syndrome; familial pelvis-scapular dysplasia

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH UMLS GARD MONDO SCTID OMIM ORPHANET

More info about COUSIN SYNDROME

Low match FILIPPI SYNDROME; FLPIS

Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad and prominent nasal bridge, and diminished alar flare. Common features include cryptorchidism, speech impairment, and clinodactyly of the fifth finger, Some patients exhibit visual disturbances, polydactyly, seizures, and/or ectodermal abnormalities, such as nail hypoplasia, long eyelashes, hirsutism, and microdontia (summary by Hussain et al., 2014).

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

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: ORPHANET GARD MESH UMLS SCTID OMIM MONDO

More info about FILIPPI SYNDROME; FLPIS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Ambiguous genitalia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Cryptorchidism Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Ambiguous genitalia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect Micrognathia Microcephaly Low-set ears Short stature Micropenis Frontal bossing Macrocephaly Patent ductus arteriosus Prominent forehead Wide nasal bridge Pica Ventriculomegaly Motor delay Abnormality of the skeletal system Abnormal facial shape Hypertrichosis Atrial septal defect Autosomal dominant inheritance Hearing impairment Syndactyly Growth delay Toe syndactyly Congenital diaphragmatic hernia Talipes equinovarus Hernia Polydactyly Cleft palate Hypospadias Seizures Epicanthus Spasticity

Rare Symptoms - Less than 30% cases


Underdeveloped nasal alae Pachygyria Decreased body weight Clinodactyly of the 5th finger Postaxial polydactyly Recurrent urinary tract infections Hypoplasia of penis Thin vermilion border Sensorineural hearing impairment Camptodactyly Sparse hair Finger syndactyly Brachydactyly Intellectual disability, severe Fine hair Microdontia Oxycephaly Abnormality of cardiovascular system morphology Short palpebral fissure Labial hypoplasia Intrauterine growth retardation Delayed skeletal maturation X-linked recessive inheritance Respiratory failure Omphalocele Cutaneous syndactyly Feeding difficulties in infancy Small for gestational age Abnormal cardiac septum morphology Redundant skin Severe short stature Wide anterior fontanel Abnormality of the pinna Abnormality of the genital system Abnormal heart morphology Gliosis Postnatal microcephaly Specific learning disability Hypodontia Smooth philtrum Oculomotor apraxia Muscular hypotonia of the trunk Prominent nasal bridge Hypogonadism Thin upper lip vermilion Upslanted palpebral fissure Agenesis of corpus callosum Clitoral hypertrophy Dystonia Posteriorly rotated ears Hypertonia Hyperreflexia Depressed nasal bridge Optic atrophy Downslanted palpebral fissures Muscular hypotonia Anteverted nares Visual impairment Flexion contracture High palate Short femoral neck Oral cleft Pneumonia Arnold-Chiari malformation Vertebral fusion Anteriorly placed anus Cupped ear Cleft lip Short clavicles Flat acetabular roof Neurodevelopmental delay Fused cervical vertebrae Cleft upper lip Pectus carinatum Intestinal malrotation Anal atresia Telecanthus Gastroesophageal reflux Trigonocephaly Vesicoureteral reflux Wormian bones Posterior pharyngeal cleft Abnormality of the nasopharynx Chylothorax Abnormality of the pharynx Widow's peak Double outlet right ventricle Intestinal lymphangiectasia Bladder exstrophy Right aortic arch Aspiration pneumonia Osteoma Recurrent aspiration pneumonia Bilateral cleft lip Exstrophy Pulmonary artery atresia Ptosis Coarctation of aorta Bilateral cleft lip and palate Hydrocele testis Prominent metopic ridge Increased number of teeth Abnormality of the voice Renal insufficiency Coarse facial features Tapered finger Astigmatism Aspiration Volvulus Postural instability Tetralogy of Fallot Large fontanelles Gait imbalance Stenosis of the external auditory canal Strabismus Single transverse palmar crease Generalized hirsutism Long eyelashes Small nail Limitation of joint mobility Hirsutism Paraplegia Wide nose Thick eyebrow Widely spaced teeth Bulbous nose Synophrys Broad forehead Short philtrum Postnatal growth retardation Intellectual disability, moderate Proptosis Clinodactyly Bilateral single transverse palmar creases Mutism Cerebellar atrophy Low hanging columella Frontal hirsutism Clinodactyly of the 5th toe Enlarged epiphyses Aplastic/hypoplastic toenail Anteverted ears Cutaneous syndactyly of toes Congenital microcephaly Broad columella Limb hypertonia Short middle phalanx of finger Echolalia Abnormality of digit Narrow nose Limb dystonia Cutaneous finger syndactyly Aphasia Dysphasia Supernumerary nipple Brachycephaly Abnormality of the joint spaces of the elbow Short neck Rhizomelia Bell-shaped thorax Hypoplastic iliac wing Mesomelia Dislocated radial head 2-3 toe syndactyly Narrow palpebral fissure Congenital hip dislocation Elbow flexion contracture Joint contracture of the hand Hypoplastic scapulae Low posterior hairline Microcornea Hip dislocation Deeply set eye Blepharophimosis Hydronephrosis Microphthalmia Hydrocephalus Hypoplastic ilia Short femur Anterior rounding of vertebral bodies Hypoplastic pubic bone Absent proximal finger flexion creases Abnormality of the skull base Prominent protruding coccyx Microtia, first degree Mesomelic leg shortening Facial hirsutism 4-5 toe syndactyly Alveolar ridge overgrowth Ambiguous genitalia, female Microglossia Hydranencephaly Long clavicles Hypoplastic ischia Humeroradial synostosis Wrist flexion contracture Redundant neck skin Fibular aplasia Ambiguous genitalia, male Heterogeneous Narrow face Pectus excavatum Thin skin Short chin Ectropion Abnormality of the outer ear Atresia of the external auditory canal Sacral dimple Cutis laxa Dental malocclusion Absent eyebrow Short metacarpal Hypoplasia of the maxilla Abnormality of skin pigmentation Dry skin Corneal opacity Microtia Wide mouth Sparse eyebrow Abnormality of the mouth Umbilical hernia Breast hypoplasia Short upper lip Absent nipple Abnormal nasal morphology Overbite Excessive wrinkled skin Conical tooth High-frequency hearing impairment Hypoplastic nipples Aplasia/Hypoplasia of the nipples Abnormal hair pattern Abnormality of finger Absent eyelashes Hypoplasia of the zygomatic bone Corneal erosion Shallow orbits Camptodactyly of finger Malar flattening Cryptophthalmos Absent speech Spastic paraplegia Irritability Apnea Clonus Sporadic Macrotia Myoclonus Chorea Cerebellar hypoplasia Congenital onset Cerebral atrophy Hypoplasia of the corpus callosum Nevus Muscle weakness Nystagmus Abnormality of the cerebral white matter Delayed myelination Short nose Thick upper lip vermilion Myopia Cognitive impairment Olivopontocerebellar hypoplasia Microphallus Nevus flammeus Sex reversal Esotropia Hypoplasia of the pons Hypoplasia of the brainstem Flat occiput Prominent supraorbital ridges Progressive microcephaly Hypergonadotropic hypogonadism Fasciculations Abnormality of female external genitalia Absent hair Respiratory insufficiency Chronic lung disease X-linked inheritance Hyperactivity High forehead Diarrhea Long philtrum Pulmonary artery hypoplasia Recurrent lower respiratory tract infections Malabsorption Scaphocephaly Enlarged kidney Cortical gyral simplification Multicystic kidney dysplasia Abnormal lung morphology Asthma Decreased fetal movement Severe global developmental delay Pulmonary hypoplasia Long face Duane anomaly Dysphagia Neoplasm Type I lissencephaly Temperature instability Abnormality of temperature regulation Long upper lip Profound global developmental delay Death in infancy Exocrine pancreatic insufficiency Infantile spasms Lissencephaly Chronic diarrhea Aganglionic megacolon Hypohidrosis Decreased testicular size Convex nasal ridge Renal cyst Ablepharon Relative macrocephaly Inguinal hernia Ataxia Scrotal hypospadias Penoscrotal hypospadias Unilateral cryptorchidism Pterygium Melanocytic nevus Retinal dystrophy Small hand Triangular face Feeding difficulties Long uvula Ventral hernia Hypoplasia of eyelid Microtia, third degree Retinopathy Postaxial hand polydactyly Respiratory tract infection Prominent occiput Protruding ear Polyhydramnios Immunodeficiency Recurrent respiratory infections Respiratory distress Failure to thrive Abnormality of the clavicle Molar tooth sign on MRI Sloping forehead Nephronophthisis Aplasia/Hypoplasia of the cerebellum Triphalangeal thumb Aplasia/Hypoplasia of the corpus callosum Dandy-Walker malformation Tall stature Apraxia 2-4 toe syndactyly



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